Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error HIST2H3PS2 440686 genome.wustl.edu 36 1 147667142 147667142 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 1 147667142 147667142 G A SNP HIST2H3PS2 ENST00000369176 human ensembl 54_36p -1 known missense c.25 p.R9C 1 NULL - - no_errors ZNF687 57592 genome.wustl.edu 36 1 149525896 149525896 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 1 149525896 149525896 G A SNP ZNF687 NM_020832 human genbank 54_36p 1 provisional missense c.505 p.E169K 1 NULL superfamily_C2H2 and C2HC zinc fingers;HMMPfam_zf-C2H2 - no_errors FLAD1 80308 genome.wustl.edu 36 1 153227424 153227424 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 1 153227424 153227424 G C SNP FLAD1 NM_025207 human genbank 54_36p 1 reviewed missense c.592 p.E198Q 0.31 HMMPfam_MoCF_biosynth HMMPfam_MoCF_biosynth;superfamily_Molybdenum cofactor biosynthesis proteins;HMMPfam_PAPS_reduct;superfamily_Adenine nucleotide alpha hydrolases-like - no_errors FCRL3 115352 genome.wustl.edu 36 1 155933778 155933778 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 1 155933778 155933778 A T SNP FCRL3 NM_052939 human genbank 54_36p -1 reviewed missense c.620 p.M207K 0.91 NULL - - no_errors PIGM 93183 genome.wustl.edu 36 1 158267377 158267377 + Silent SNP A A G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 1 158267377 158267377 A G SNP PIGM NM_145167 human genbank 54_36p -1 reviewed silent c.777 p.F259 0.99 HMMPfam_Mannosyl_trans HMMPfam_Mannosyl_trans - no_errors C1orf144 26099 genome.wustl.edu 36 1 16592355 16592356 + Frame_Shift_Ins INS - - ATTGT novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 1 16592355 16592356 - ATTGT INS C1orf144 NM_015609 human genbank 54_36p 1 provisional frame_shift_ins c.90_91 p.D30fs 1.000:1.000 NULL - - no_errors LAMC1 3915 genome.wustl.edu 36 1 181346371 181346371 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 1 181346371 181346371 C G SNP LAMC1 NM_002293 human genbank 54_36p 1 reviewed missense c.980 p.P327R 1 HMMPfam_Laminin_EGF HMMPfam_Laminin_B;HMMPfam_Laminin_EGF;HMMPfam_Laminin_N;superfamily_Growth factor receptor domain;superfamily_EGF/Laminin - no_errors NCF2 4688 genome.wustl.edu 36 1 181810245 181810245 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 1 181810245 181810245 C G SNP NCF2 NM_000433 human genbank 54_36p -1 reviewed missense c.501 p.W167C 1 NULL HMMPfam_PB1;HMMPfam_TPR_1;HMMPfam_SH3_1;superfamily_SH3-domain;superfamily_TPR-like;superfamily_CAD PB1 domains - no_errors LMOD1 25802 genome.wustl.edu 36 1 200135833 200135833 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 1 200135833 200135833 C T SNP LMOD1 ENST00000367288 human ensembl 54_36p -1 known missense c.931 p.E311K 1 NULL - - no_errors ARL8A 127829 genome.wustl.edu 36 1 200371488 200371488 + Silent SNP T T C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 1 200371488 200371488 T C SNP ARL8A NM_138795 human genbank 54_36p -1 validated silent c.342 p.L114 0.86 HMMPfam_Arf HMMPfam_Arf;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors CENPF 1063 genome.wustl.edu 36 1 212882202 212882202 + Silent SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 1 212882202 212882202 C T SNP CENPF NM_016343 human genbank 54_36p 1 reviewed silent c.3898 p.L1300 0.01 NULL Spectrin repeat;superfamily_Spectrin repeat;BAG domain;superfamily_BAG domain - no_errors KIF26B 55083 genome.wustl.edu 36 1 243928855 243928855 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 1 243928855 243928855 G A SNP KIF26B NM_018012 human genbank 54_36p 1 provisional missense c.6071 p.R2024H 1 NULL - - no_errors BRDT 676 genome.wustl.edu 36 1 92214479 92214479 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 1 92214479 92214479 T G SNP BRDT NM_001726 human genbank 54_36p 1 validated missense c.514 p.F172V NULL HMMPfam_Bromodomain;superfamily_Bromodomain - no_errors CUBN 8029 genome.wustl.edu 36 10 17125901 17125901 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 10 17125901 17125901 T A SNP CUBN NM_001081 human genbank 54_36p -1 reviewed missense c.3760 p.S1254C 0.94 HMMPfam_CUB HMMPfam_CUB;superfamily_Spermadhesin CUB domain;HMMPfam_EGF;HMMPfam_EGF_CA;superfamily_EGF/Laminin - no_errors ARHGAP21 57584 genome.wustl.edu 36 10 24926891 24926891 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 10 24926891 24926891 G C SNP ARHGAP21 NM_020824 human genbank 54_36p -1 validated missense c.3183 p.N1061K 1 NULL HMMPfam_RhoGAP;HMMPfam_PDZ;superfamily_PDZ domain-like;HMMPfam_PH;superfamily_GTPase activation domain GAP;superfamily_PH domain-like - no_errors GPR158 57512 genome.wustl.edu 36 10 25927612 25927612 + Silent SNP T T C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 10 25927612 25927612 T C SNP GPR158 NM_020752 human genbank 54_36p 1 validated silent c.3051 p.G1017 0.9 NULL HMMPfam_7tm_3;superfamily_EGF/Laminin - no_errors COL13A1 1305 genome.wustl.edu 36 10 71348079 71348079 + Silent SNP G G A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 10 71348079 71348079 G A SNP COL13A1 NM_005203 human genbank 54_36p 1 reviewed silent c.1029 p.K343 1 HMMPfam_Collagen HMMPfam_Collagen - no_errors SNORD114-11 767589 genome.wustl.edu 36 14 100504268 100504268 + RNA SNP A A T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 14 100504268 100504268 A T SNP SNORD114-11 NR_003204 human genbank 54_36p 1 provisional rna NULL NULL 0.02 - - - no_errors LOC340970 340970 genome.wustl.edu 36 11 48965650 48965650 + RNA SNP G G T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 11 48965650 48965650 G T SNP LOC340970 XR_042351 human genbank 54_36p -1 model rna NULL NULL - - - pseudogene OR51A4 401666 genome.wustl.edu 36 11 4924365 4924365 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 11 4924365 4924365 C T SNP OR51A4 NM_001005329 human genbank 54_36p -1 provisional missense c.542 p.C181Y 0.99 NULL - - no_errors FAT3 120114 genome.wustl.edu 36 11 92172530 92172530 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 11 92172530 92172530 T G SNP FAT3 NM_001008781 human genbank 54_36p 1 validated missense c.6703 p.F2235V 1 NULL - - no_errors CMAS 55907 genome.wustl.edu 36 12 22105655 22105655 + Splice_Site SNP T T G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 12 22105655 22105655 T G SNP CMAS NM_018686 human genbank 54_36p 1 reviewed splice_site c.960+2 e6+2 1 - - - no_errors CACNA1C 775 genome.wustl.edu 36 12 2659073 2659073 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 12 2659073 2659073 C A SNP CACNA1C NM_000719 human genbank 54_36p 1 reviewed missense c.5294 p.A1765D 1 NULL HMMPfam_Ion_trans;HMMPfam_Ca_chan_IQ;superfamily_EF-hand;superfamily_Voltage-gated potassium channels - no_errors DDX23 9416 genome.wustl.edu 36 12 47513508 47513508 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 12 47513508 47513508 C A SNP DDX23 NM_004818 human genbank 54_36p -1 reviewed missense c.1622 p.S541I 1 HMMPfam_DEAD HMMPfam_Helicase_C;HMMPfam_DEAD;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors OS9 10956 genome.wustl.edu 36 12 56398264 56398265 + Nonsense_Mutation DNP GA GA TT novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 GA GA GA TT GA GA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 12 56398264 56398265 GA TT DNP OS9 NM_006812 human genbank 54_36p 1 reviewed nonsense c.1203_1204 p.EKE401D* 0.035:0.194 NULL superfamily_Mannose 6-phosphate receptor domain;HMMPfam_PRKCSH - no_errors MDM1 56890 genome.wustl.edu 36 12 67006998 67006998 + Silent SNP A A C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 12 67006998 67006998 A C SNP MDM1 NM_017440 human genbank 54_36p -1 reviewed silent c.204 p.S68 1 NULL - - no_errors RB1 5925 genome.wustl.edu 36 13 47937406 47937422 + Frame_Shift_Del DEL TACGGATTCCTGGAGGG TACGGATTCCTGGAGGG - Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 TACGGATTCCTGGAGGG TACGGATTCCTGGAGGG TACGGATTCCTGGAGGG - TACGGATTCCTGGAGGG TACGGATTCCTGGAGGG Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 13 47937406 47937422 TACGGATTCCTGGAGGG - DEL RB1 NM_000321 human genbank 54_36p 1 reviewed frame_shift_del c.2390_2406 p.L797fs 0.997:0.978:1.000:1.000:0.968:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.958:0.443:0.994:1.000:0.997 HMMPfam_Rb_C RB_B,HMMPfam_RB_B,RB_A,HMMPfam_RB_A,Rb_C,HMMPfam_Rb_C (deletion:cds_exon[47937342,47937505]) no_errors IGHM 3507 genome.wustl.edu 36 14 105391761 105391761 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 14 105391761 105391761 C A SNP IGHM ENST00000390558 human ensembl 54_36p -1 known nonsense c.1093 p.G365* 1 NULL - - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region G2E3 55632 genome.wustl.edu 36 14 30128370 30128374 + Frame_Shift_Del DEL AAAGA AAAGA - novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 AAAGA AAAGA AAAGA - AAAGA AAAGA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 14 30128370 30128374 AAAGA - DEL G2E3 NM_017769 human genbank 54_36p 1 validated frame_shift_del c.166_170 p.K56fs 0.997:1.000:1.000:1.000:1.000 NULL - (deletion:cds_exon[30128340;30128441]) no_errors EML5 161436 genome.wustl.edu 36 14 88275019 88275019 + Silent SNP T T C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 14 88275019 88275019 T C SNP EML5 NM_183387 human genbank 54_36p -1 validated silent c.804 p.P268 1 NULL HMMPfam_WD40;HMMPfam_HELP;superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase;superfamily_WD40 repeat-like - no_errors B2M 567 genome.wustl.edu 36 15 42791037 42791037 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 15 42791037 42791037 A G SNP B2M NM_004048 human genbank 54_36p 1 validated missense c.1 p.M1V 0.06 NULL - - no_errors SLC28A2 9153 genome.wustl.edu 36 15 43347163 43347163 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 15 43347163 43347163 C T SNP SLC28A2 NM_004212 human genbank 54_36p 1 provisional missense c.1076 p.A359V 1 NULL - - no_errors LOC100130935 100130935 genome.wustl.edu 36 X 151647365 151647365 + Silent SNP G G T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e X 151647365 151647365 G T SNP LOC100130935 XM_001721280 human genbank 54_36p -1 model silent c.114 p.A38 NULL - - no_errors WDR24 84219 genome.wustl.edu 36 16 679276 679276 + Silent SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 16 679276 679276 C T SNP WDR24 NM_032259 human genbank 54_36p -1 provisional silent c.366 p.T122 0.889 NULL - - no_errors SLC4A1 6521 genome.wustl.edu 36 17 39690943 39690944 + Missense_Mutation DNP CC CC AG novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 CC CC CC AG CC CC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 17 39690943 39690944 CC AG DNP SLC4A1 NM_000342 human genbank 54_36p -1 reviewed missense c.1219_1218 p.A407S 1.000:1.000 NULL - - no_errors TP53 7157 genome.wustl.edu 36 17 7517583 7517583 + Frame_Shift_Del DEL G G - novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G - G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 17 7517583 7517583 G - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.988 p.L330fs 1 HMMPfam_P53_tetramer superfamily_p53-like transcription factors;superfamily_p53 tetramerization domain;P53_tetramer;HMMPfam_P53_tetramer;P53;HMMPfam_P53;P53_TAD;HMMPfam_P53_TAD (deletion:cds_exon[7517578;7517651]) no_errors KLHL26 55295 genome.wustl.edu 36 19 18640040 18640040 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 19 18640040 18640040 G A SNP KLHL26 NM_018316 human genbank 54_36p 1 provisional missense c.833 p.R278H 1 NULL HMMPfam_Kelch_1,superfamily_Galactose oxidase central domain,HMMPfam_BACK,HMMPfam_BTB,superfamily_POZ domain - no_errors NPHS1 4868 genome.wustl.edu 36 19 41026974 41026974 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 19 41026974 41026974 G A SNP NPHS1 NM_004646 human genbank 54_36p -1 validated missense c.2083 p.R695W 1 HMMPfam_I-set HMMPfam_fn3;superfamily_Fibronectin type III;HMMPfam_I-set;HMMPfam_V-set;HMMPfam_ig;HMMPfam_C2-set_2;superfamily_Immunoglobulin - no_errors LTBP4 8425 genome.wustl.edu 36 19 45807382 45807382 + Silent SNP C C G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 19 45807382 45807382 C G SNP LTBP4 ENST00000308370 human ensembl 54_36p 1 known silent c.1734 p.L578 1 NULL - - no_errors CYP2B6 1555 genome.wustl.edu 36 19 46210210 46210210 + Nonsense_Mutation SNP C C T rs34097093 Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 19 46210210 46210210 C T SNP CYP2B6 NM_000767 human genbank 54_36p 1 reviewed nonsense c.1132 p.R378* 0.81 NULL - - no_errors ZNF577 84765 genome.wustl.edu 36 19 57068423 57068423 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 19 57068423 57068423 T C SNP ZNF577 NM_032679 human genbank 54_36p -1 validated missense c.611 p.E204G 1 NULL - - no_errors ZNF83 55769 genome.wustl.edu 36 19 57809701 57809701 + RNA SNP A A C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 19 57809701 57809701 A C SNP ZNF83 NR_003936 human genbank 54_36p -1 validated rna NULL NULL - - - no_errors PRPF31 26121 genome.wustl.edu 36 19 59319829 59319829 + Silent SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 19 59319829 59319829 C T SNP PRPF31 NM_015629 human genbank 54_36p 1 reviewed silent c.837 p.I279 0.75 HMMPfam_Nop HMMPfam_Nop;HMMPfam_NOSIC;superfamily_Nop domain - no_errors ST6GAL2 84620 genome.wustl.edu 36 2 106815517 106815517 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 2 106815517 106815517 G A SNP ST6GAL2 NM_032528 human genbank 54_36p -1 validated missense c.1079 p.S360L 1 HMMPfam_Glyco_transf_29 HMMPfam_Glyco_transf_29;superfamily_Glycoside hydrolase/deacetylase - no_errors DDX18 8886 genome.wustl.edu 36 2 118303345 118303345 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 2 118303345 118303345 T C SNP DDX18 NM_006773 human genbank 54_36p 1 reviewed missense c.1703 p.L568S 1 NULL HMMPfam_Helicase_C;HMMPfam_DEAD;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors MAP3K2 10746 genome.wustl.edu 36 2 127788865 127788865 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 2 127788865 127788865 G C SNP MAP3K2 NM_006609 human genbank 54_36p -1 reviewed missense c.1391 p.T464S 1 HMMPfam_Pkinase PB1;HMMPfam_PB1;Pkinase;HMMPfam_Pkinase - no_errors MBD5 55777 genome.wustl.edu 36 2 148964276 148964276 + Silent SNP A A C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 2 148964276 148964276 A C SNP MBD5 NM_018328 human genbank 54_36p 1 validated silent c.3906 p.G1302 1 NULL - - no_errors SCN2A 6326 genome.wustl.edu 36 2 165878420 165878420 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 2 165878420 165878420 C T SNP SCN2A NM_001040142 human genbank 54_36p 1 reviewed missense c.1079 p.P360L 1 HMMPfam_Ion_trans HMMPfam_IQ;HMMPfam_Ion_trans;HMMPfam_Na_trans_assoc;superfamily_EF-hand;superfamily_Voltage-gated potassium channels - no_errors SCN1A 6323 genome.wustl.edu 36 2 166560775 166560775 + Silent SNP T T A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 2 166560775 166560775 T A SNP SCN1A NM_006920 human genbank 54_36p -1 validated silent c.4542 p.R1514 1 NULL HMMPfam_IQ;HMMPfam_Ion_trans;HMMPfam_Na_trans_assoc;superfamily_EF-hand;superfamily_Voltage-gated potassium channels - no_errors TTN 7273 genome.wustl.edu 36 2 179324750 179324750 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 2 179324750 179324750 T A SNP TTN NM_133379 human genbank 54_36p -1 reviewed missense c.10622 p.N3541I 0.93 HMMPfam_I-set HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,superfamily_Immunoglobulin,superfamily_beta-sandwich domain of Sec23/24 - no_errors RHBDD1 84236 genome.wustl.edu 36 2 227487240 227487240 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 2 227487240 227487240 A G SNP RHBDD1 NM_032276 human genbank 54_36p 1 provisional missense c.785 p.D262G 0.65 NULL HMMPfam_Rhomboid - no_errors SP110 3431 genome.wustl.edu 36 2 230745064 230745064 + Nonsense_Mutation SNP T T A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 2 230745064 230745064 T A SNP SP110 NM_080424 human genbank 54_36p -1 reviewed nonsense c.1777 p.K593* 0.01 NULL HMMPfam_SAND;HMMPfam_Bromodomain;HMMPfam_PHD;HMMPfam_Sp100;superfamily_SAND domain-like;superfamily_FYVE/PHD zinc finger;superfamily_Bromodomain - no_errors PPM1F 9647 genome.wustl.edu 36 22 20617785 20617785 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 22 20617785 20617785 A G SNP PPM1F NM_014634 human genbank 54_36p -1 reviewed missense c.725 p.F242S 0.992 HMMPfam_PP2C HMMPfam_PP2C,superfamily_Protein serine/threonine phosphatase 2C catalytic domain - no_errors PHF21B 112885 genome.wustl.edu 36 22 43670621 43670621 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 22 43670621 43670621 C T SNP PHF21B NM_138415 human genbank 54_36p -1 validated missense c.838 p.A280T 1 NULL HMMPfam_PHD;superfamily_FYVE/PHD zinc finger - no_errors TTLL8 164714 genome.wustl.edu 36 22 48821802 48821802 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 22 48821802 48821802 T C SNP TTLL8 NM_001080447 human genbank 54_36p -1 provisional missense c.862 p.I288V NULL - - no_errors MOV10L1 54456 genome.wustl.edu 36 22 48906086 48906086 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 22 48906086 48906086 G T SNP MOV10L1 NM_018995 human genbank 54_36p 1 reviewed missense c.1708 p.V570F 1 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors ARHGAP31 57514 genome.wustl.edu 36 3 120615793 120615793 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 3 120615793 120615793 A C SNP CDGAP NM_020754 human genbank 54_36p 1 reviewed missense c.2327 p.N776T 0.02 NULL - - no_errors HPS3 84343 genome.wustl.edu 36 3 150368384 150368384 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 3 150368384 150368384 A C SNP HPS3 NM_032383 human genbank 54_36p 1 reviewed missense c.2811 p.K937N 1 NULL - - no_errors CP 1356 genome.wustl.edu 36 3 150413013 150413013 + Silent SNP A A G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 3 150413013 150413013 A G SNP CP NM_000096 human genbank 54_36p -1 reviewed silent c.309 p.D103 0.04 HMMPfam_Cu-oxidase_3 superfamily_Cupredoxins;HMMPfam_Cu-oxidase_2;HMMPfam_Cu-oxidase_3;HMMPfam_Cu-oxidase - no_errors LRCH3 84859 genome.wustl.edu 36 3 199043532 199043532 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 3 199043532 199043532 G C SNP LRCH3 NM_032773 human genbank 54_36p 1 provisional missense c.1049 p.R350T 1 NULL HMMPfam_LRR_1;superfamily_Calponin-homology domain CH-domain;superfamily_L domain-like - no_errors AZI2 64343 genome.wustl.edu 36 3 28355111 28355111 + Splice_Site SNP C C G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 3 28355111 28355111 C G SNP AZI2 NM_022461 human genbank 54_36p -1 validated splice_site c.217-1 e2-1 1 - - - no_errors CNTN4 152330 genome.wustl.edu 36 3 3005054 3005054 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 3 3005054 3005054 C T SNP CNTN4 NM_175607 human genbank 54_36p 1 reviewed missense c.1384 p.L462F 1 HMMPfam_I-set fn3;HMMPfam_fn3;I-set;HMMPfam_I-set;ig;HMMPfam_ig - no_errors SCN10A 6336 genome.wustl.edu 36 3 38768977 38768977 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 3 38768977 38768977 G A SNP SCN10A NM_006514 human genbank 54_36p -1 validated missense c.1492 p.R498W 0.877 NULL - - no_errors BSN 8927 genome.wustl.edu 36 3 49670021 49670021 + Silent SNP G G A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 3 49670021 49670021 G A SNP BSN NM_003458 human genbank 54_36p 1 validated silent c.8028 p.T2676 0.7 NULL HMMPfam_zf-piccolo;superfamily_Actin-crosslinking proteins;superfamily_FYVE/PHD zinc finger - no_errors CENPE 1062 genome.wustl.edu 36 4 104249486 104249486 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 4 104249486 104249486 A G SNP CENPE NM_001813 human genbank 54_36p -1 validated missense c.7934 p.F2645S 0.15 NULL HMMPfam_Kinesin;superfamily_Domain of the SRP/SRP receptor G-proteins;superfamily_STAT;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors MGST2 4258 genome.wustl.edu 36 4 140844720 140844720 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 4 140844720 140844720 A T SNP MGST2 NM_002413 human genbank 54_36p 1 reviewed missense c.412 p.N138Y 0.01 NULL HMMPfam_MAPEG - no_errors INPP4B 8821 genome.wustl.edu 36 4 143262846 143262846 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 4 143262846 143262846 C A SNP INPP4B NM_001101669 human genbank 54_36p -1 reviewed missense c.2020 p.D674Y 1 NULL - - no_errors AASDH 132949 genome.wustl.edu 36 4 56899386 56899386 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 4 56899386 56899386 A G SNP AASDH NM_181806 human genbank 54_36p -1 validated missense c.3236 p.I1079T 0.99 NULL - - no_errors SLC4A4 8671 genome.wustl.edu 36 4 72535849 72535849 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 4 72535849 72535849 A T SNP SLC4A4 NM_001098484 human genbank 54_36p 1 reviewed missense c.1289 p.H430L 1 NULL - - no_errors PCDHB18 54660 genome.wustl.edu 36 5 140595205 140595205 + Missense_Mutation SNP G A A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 5 140595205 140595205 G A SNP PCDHB18 ENST00000274705 human ensembl 54_36p 1 known missense c.736 p.E246K 0.99 NULL - - no_errors HK3 3101 genome.wustl.edu 36 5 176255732 176255732 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 5 176255732 176255732 C T SNP HK3 NM_002115 human genbank 54_36p -1 reviewed missense c.35 p.G12E NULL HMMPfam_Hexokinase_1;HMMPfam_Hexokinase_2;superfamily_Actin-like ATPase domain - no_errors SPEF2 79925 genome.wustl.edu 36 5 35809758 35809758 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 5 35809758 35809758 C T SNP SPEF2 NM_024867 human genbank 54_36p 1 validated missense c.3956 p.S1319L 0.02 NULL - - no_errors LAMA2 3908 genome.wustl.edu 36 6 129754469 129754469 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 6 129754469 129754469 G A SNP LAMA2 NM_000426 human genbank 54_36p 1 reviewed missense c.5212 p.E1738K 1 HMMPfam_Laminin_I HMMPfam_Laminin_B;HMMPfam_Laminin_EGF;HMMPfam_Laminin_N;superfamily_Galactose-binding domain-like;superfamily_Concanavalin A-like lectins/glucanases;superfamily_Prefoldin;HMMPfam_Laminin_I;HMMPfam_Laminin_II;HMMPfam_Laminin_G_1;HMMPfam_Laminin_G_2;superfamily_ADP-ribosylation;superfamily_EGF/Laminin - no_errors HLA-A 3105 genome.wustl.edu 36 6 30018561 30018576 + Frame_Shift_Del DEL GCGGGGAGCCCCGCTT GCGGGGAGCCCCGCTT - Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 GCGGGGAGCCCCGCTT GCGGGGAGCCCCGCTT GCGGGGAGCCCCGCTT - GCGGGGAGCCCCGCTT GCGGGGAGCCCCGCTT Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 6 30018561 30018576 GCGGGGAGCCCCGCTT - DEL HLA-A NM_002116 human genbank 54_36p 1 reviewed frame_shift_del c.122_137 p.R41fs 0.001:0.001:0.003:0.003:0.002:0.000:0.000:0.000:0.002:0.002:0.000:0.000:0.000:0.001:0.006:0.008 NULL - (deletion:cds_exon[30018513,30018782]) no_errors SRPK1 6732 genome.wustl.edu 36 6 35945246 35945246 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 6 35945246 35945246 C T SNP SRPK1 NM_003137 human genbank 54_36p -1 reviewed missense c.1402 p.D468N 0.96 HMMPfam_Pkinase HMMPfam_Pkinase;superfamily_Protein kinase-like (PK-like) - no_errors SLC26A8 116369 genome.wustl.edu 36 6 36019678 36019678 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 6 36019678 36019678 C T SNP SLC26A8 NM_052961 human genbank 54_36p -1 reviewed missense c.2890 p.G964S NULL HMMPfam_STAS;superfamily_Anti-sigma factor antagonist SpoIIaa;HMMPfam_Sulfate_transp - no_errors ZFAND3 60685 genome.wustl.edu 36 6 38192432 38192432 + Silent SNP G G T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 6 38192432 38192432 G T SNP ZFAND3 NM_021943 human genbank 54_36p 1 validated silent c.468 p.R156 0.98 NULL - - no_errors UBR2 23304 genome.wustl.edu 36 6 42681509 42681509 + Silent SNP T T C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 6 42681509 42681509 T C SNP UBR2 NM_015255 human genbank 54_36p 1 provisional silent c.735 p.T245 0.99 NULL - - no_errors LOC442153 442153 genome.wustl.edu 36 6 4648032 4648032 + RNA SNP A A G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 6 4648032 4648032 A G SNP LOC442153 XR_016425 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene CD2AP 23607 genome.wustl.edu 36 6 47681952 47681952 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 6 47681952 47681952 C T SNP CD2AP NM_012120 human genbank 54_36p 1 reviewed missense c.1510 p.R504C 1 NULL HMMPfam_SH3_1;superfamily_SH3-domain - no_errors C6orf167 253714 genome.wustl.edu 36 6 97727664 97727664 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 6 97727664 97727664 C G SNP C6orf167 NM_198468 human genbank 54_36p -1 predicted missense c.2835 p.M945I 1 NULL - - no_errors ENSG00000166104 0 genome.wustl.edu 36 15 60326813 60326813 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 15 60326813 60326813 C T SNP ENSG00000166104 ENST00000299125 human ensembl 54_36p -1 known missense c.251 p.R84Q 0.09 NULL - - no_start_codon PIK3CG 5294 genome.wustl.edu 36 7 106296377 106296377 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 7 106296377 106296377 C A SNP PIK3CG NM_002649 human genbank 54_36p 1 reviewed missense c.1135 p.L379I 1 HMMPfam_PI3K_C2 PI3K_rbd;HMMPfam_PI3K_rbd;PI3_PI4_kinase;HMMPfam_PI3_PI4_kinase;PI3Ka;HMMPfam_PI3Ka;PI3K_C2;HMMPfam_PI3K_C2 - no_errors SLC37A3 84255 genome.wustl.edu 36 7 139728729 139728729 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 7 139728729 139728729 C T SNP SLC37A3 NM_207113 human genbank 54_36p -1 validated missense c.67 p.V23M 0.84 NULL HMMPfam_MFS_1;superfamily_MFS general substrate transporter - no_errors OR2F1 26211 genome.wustl.edu 36 7 143288443 143288443 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 7 143288443 143288443 G T SNP OR2F1 NM_012369 human genbank 54_36p 1 provisional missense c.447 p.W149C 0.99 NULL - - no_errors CNTNAP2 26047 genome.wustl.edu 36 7 146460357 146460357 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 7 146460357 146460357 A C SNP CNTNAP2 NM_014141 human genbank 54_36p 1 reviewed missense c.1171 p.N391H 0.02 NULL HMMPfam_F5_F8_type_C;HMMPfam_EGF;superfamily_Galactose-binding domain-like;superfamily_Concanavalin A-like lectins/glucanases;HMMPfam_Laminin_G_2;superfamily_Fibrinogen C-terminal domain-like - no_errors PKD1L1 168507 genome.wustl.edu 36 7 47843084 47843084 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 7 47843084 47843084 G C SNP PKD1L1 NM_138295 human genbank 54_36p -1 reviewed missense c.5903 p.A1968G 0.06 NULL - - no_errors LOC647415 647415 genome.wustl.edu 36 7 6931827 6931827 + RNA SNP C C A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 7 6931827 6931827 C A SNP LOC647415 XR_037564 human genbank 54_36p 1 model rna NULL NULL 0 - - - pseudogene ZSCAN21 7589 genome.wustl.edu 36 7 99499717 99499717 + Silent SNP C C G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 7 99499717 99499717 C G SNP ZSCAN21 NM_145914 human genbank 54_36p 1 validated silent c.963 p.T321 HMMPfam_zf-C2H2 HMMPfam_SCAN;HMMPfam_zf-C2H2;superfamily_C2H2 and C2HC zinc fingers - no_errors ADAM2 2515 genome.wustl.edu 36 8 39721571 39721571 + Splice_Site SNP T T A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 8 39721571 39721571 T A SNP ADAM2 NM_001464 human genbank 54_36p -1 reviewed splice_site c.2175-2 e20-2 0.7 - - - no_errors OPRK1 4986 genome.wustl.edu 36 8 54304520 54304520 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 8 54304520 54304520 A G SNP OPRK1 NM_000912 human genbank 54_36p -1 validated missense c.1033 p.C345R 1 NULL HMMPfam_7tm_1;superfamily_Family A G protein-coupled receptor-like - no_errors FAM90A10 441328 genome.wustl.edu 36 8 7664674 7664674 + Missense_Mutation SNP C A A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 8 7664674 7664674 C A SNP FAM90A10 XM_496957 human genbank 54_36p 1 model missense c.272 p.A91D 0 NULL - - no_errors DMRT2 10655 genome.wustl.edu 36 9 1046470 1046470 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 9 1046470 1046470 C G SNP DMRT2 NM_181872 human genbank 54_36p 1 validated missense c.883 p.P295A 0.01 NULL HMMPfam_DM;superfamily_Cysteine-rich DNA binding domain (DM domain) - no_errors MAPKAP1 79109 genome.wustl.edu 36 9 127270182 127270182 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 9 127270182 127270182 T C SNP MAPKAP1 NM_001006617 human genbank 54_36p -1 reviewed missense c.1235 p.D412G 1 HMMPfam_SIN1 HMMPfam_SIN1 - no_errors IFNB1 3456 genome.wustl.edu 36 9 21067536 21067536 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 9 21067536 21067536 A T SNP IFNB1 NM_002176 human genbank 54_36p -1 validated missense c.333 p.N111K HMMPfam_Interferon HMMPfam_Interferon;superfamily_4-helical cytokines - no_errors AGTPBP1 23287 genome.wustl.edu 36 9 87390234 87390234 + Silent SNP T T A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e 9 87390234 87390234 T A SNP AGTPBP1 NM_015239 human genbank 54_36p -1 validated silent c.3009 p.A1003 HMMPfam_Peptidase_M14 HMMPfam_Peptidase_M14;superfamily_ARM repeat;superfamily_Zn-dependent exopeptidases - no_errors CXorf57 55086 genome.wustl.edu 36 X 105755132 105755132 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e X 105755132 105755132 C T SNP CXorf57 NM_018015 human genbank 54_36p 1 validated missense c.943 p.P315S 0.96 NULL superfamily_Nucleic acid-binding proteins - no_errors ZNF711 7552 genome.wustl.edu 36 X 84413035 84413035 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e X 84413035 84413035 T C SNP ZNF711 NM_021998 human genbank 54_36p 1 reviewed missense c.1831 p.S611P 1 HMMPfam_zf-C2H2 HMMPfam_Zfx_Zfy_act;HMMPfam_zf-C2H2;superfamily_C2H2 and C2HC zinc fingers - no_errors LOC100132243 100132243 genome.wustl.edu 36 X 9339130 9339130 + RNA SNP G G C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4d3fab96-bc22-48d0-a3ef-1844ad894d0f e0bcad8c-d151-47f7-8236-e274a281c56e X 9339130 9339130 G C SNP LOC100132243 XR_037396 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene